Transcript Usher Syndrome: An Overview

Texas School for the Blind &
Visually Impaired Outreach
Department
Presents TETN # 30,238
Usher Syndrome: An
Overview
Events in February . . .
February 1-2nd - Mentor
Training at TSBVI
 February 13th - TETN O&M
for Babies Who Are NonMobile
 February 15-16th – VI Touch
Workshop with Barbara Miles
 February 18-19th – Intervener
Statewide Workshop in Austin
 February 24-26th – Mentor
Center at TSBVI

Don’t Forget to Fax
to
512-206-9320
Sign-in Sheets
 Include evaluations
 Print e-mail addresses
clearly if you want to
receive your SBEC
certificate

ACVREP Credit

ACVREP approval pending.
Certificates will be sent
once approval has been
received.

ACVREP CEU Certificate
Request Form (original
broadcast date only) located
on TSBVI website at
www.tsbvi.edu/Outreach/ACVR
EPcert_request.htm
Usher Syndrome: An
Overview
Presented by
Kate Moss, Statewide Staff Development
Coordinator
Edgenie Bellah, Family Specialist
TSBVI Outreach
With Special Guest, Linda Carter
What is Usher
Syndrome?

Hereditary Syndrome
 Hearing loss
 Progressive vision loss as a
result of Retinitis Pigmentosa
(RP)
 Combined vision and hearing
loss (deafblindness)
What is Retinitis
Pigmentosa?





Progressive vision loss
Rods of the retina (responsible
for night vision) impacted first
In some cases early cone
degeneration in macula leads to
central loss
In most cases loss in the
peripheral fields making donut
shape and progresses to tunnel
vision measured in degrees (10
degree fields)
Usually results in total vision loss
Example of Tunnel
Vision
Three Types of US –
Usher I
Hearing
Loss
Balance
Born deaf Absent
with
inner ear
balance
profound
hearing
loss and
have a
corner
audiogram
with
responses
only to
very loud
low tones.
Vision Loss Gene
Location
From RP
Night
blindness in
infancy or
early
childhood.
Blind spots
by late
childhood or
teens.
Legally
blind by
early
adulthood.
1A: Long arm of
14
1B: Long arm of
11
(most
common)
1C: Short arm
of 11 mostly of
Acadian descent
from
Louisiana
1D: Long arm of
10
1E: Long arm of
21
1F: Long arm of
10
1G: Long Arm of
17
Three Types of US –
Usher II
Hearing
Loss
Balance Vision
Loss
From RP
Born hard of Normal
hearing with inner ear
balance
a sloping
sensorineural loss
from mild
loss in the
low
frequencies
to severe/
profound loss
in high
frequencies.
Night
blindness
in
childhood
or teens.
Blind spots
by late
teens or
early
adulthood.
Legally
blind by
early to
mid
adulthood.
Gene
Location
2a: Long
arm of 1
2b: Short
arm of 3
2c: Long
arm of 5
Three Types of US –
Usher III
Hearing
Loss
Balance
Vision
Loss
From RP
Gene
Location
Onset of
hearing
loss
0-40 yrs.
Progresses
rapidly
(often over
10-15 yrs.)
to profound
deafness.
Ski-slope
audiogram
with speed
bump.
Probably
progressive
balance
problems
Similar to
3: Long
arm of 3
Type 2.
Night
blindness
in infancy
or early
childhood.
Blind spots
by late
childhood
or teens.
Legally
blind by
early
adulthood.
Statistics on occurrence
3-6%
congenitally
deaf or hard of
hearing
 50% of all
cases of
deafblindness;
leading cause
of combined
vision &
hearing loss in
USA

Type 1 - 90%
of all Usher
(most
common)
 Type 2 - 10%
of all Usher
 Type 3 –
seems to
account for
about 40% of
Usher in
eastern
Finland;

How is it diagnosed?

Ophthalmological
exam that
includes field
testing as well as
acuity testing
Boys
Town
Research Hospital
Dr. William Kimberling,
Center for the Study &
Treatment of Usher
Syndrome
Boys Town National
Research Hospital –
Omaha
Phone – 402.498.6713
email [email protected]
Hereditary Pattern

Autosomal
recessive gene:
both parents
must pass gene
for condition to
occur
 Each pregnancy
1 in 4 chance of
US and 2 in 4
chance
unaffected carrier
What treatment is
available?




Gene therapy – preclinical
settings
Nutritional therapy - vitamin A
palmitate in some RP and US
2. Docosahexaenoic acid
(DHA)— can enhance effect of
vitamin A. www.blindness.org
A Phase II/lll human clinical trial
underway to test encapsulated
cell technology (ECT) for delivery
of a vision-preserving,
therapeutic agent CNTF to retina.
Artificial retinal implants and
transplants
Educational Issues

Nightblindness (dark to light &
light to dark transitions inside and
outside)
 Restricted fields (loss of
peripheral information for
communication, travel & social
interactions)
 Possible acuity problems (need
for glasses, LP, issues with
seating)
 Glare sensitivity (need for
sunglasses, hats, problems with
overheads)
 Need for high contrast (travel and
print)
Educational Issues

Functional Vision
Assessment or Evaluation
(FVE)
 Learning Media Assessment
(LMA
 Communication – Part B
 Orientation & Mobility
Assessment
Tool for assessment

Use for
completing the
FVE, LMA and
Communication
Part-B
assessments

http://www.dblink.org/
pdf/adamls.pdf
Educational Issues

Travel cane
 Driver’s training & driver’s
license
 One-on-one interpreter
 Support Service Provider
(SSP)
Deaf-Blind Perspectives
www.tr.wou.edu/tr/dbp
DB-Perspectives,Vol.9,
Issue 1
“What’s My
Role?” A
Comparison of
the
Responsibilities
of Interpreters,
Interveners, and
Support Service
Providers
by Susannah
Morgan
Educational Issues


Balance
problems for
Type 1 and 3
may
contribute to
overall
clumsiness
May produce
a wide-based
gait although
vision loss
contributes


Certain sports
may be
difficult for the
students
Infants and
toddlers may
be delayed in
acquiring
certain motor
skills and may
crawl with a “5
point stance”.
Emotional Support
Issues

Being different
 Being uninformed
 Being left out of games /
activities
 Fearing the future
 Feeling insecure
DON’Ts for Usher
Syndrome
Stand too close when fingerspelling,
signing, speaking
2. Wave at the person from the sides to get
attention
3. Point at another person who may want
the attention
4. Grab the person’s arm to guide in the
dark
5. Conversed with light coming directly
behind you
6. Use large, wide-movements while using
sign language
7. Attempt to carry on conversation in poor
or dim light
8. Point vaguely in general direction of what
you talk about.
9. Assume that person sees low obstacles.
10. Be afraid to ask if help is needed.
1.
DOs for Usher
Syndrome
1.
2.
3.
4.
5.
6.
7.
8.
9.
10.
Stand at reasonable distance (4-5 ft.)
when fingerspelling, signing and
speaking.
Walk up to or ask person nearest him to
call his attention.
Say name of person wanting
attention/where person is.
Offer your arm for guidance in the dark.
Keep direction of the light at the side or
behind
Confine fingerspelling and signs,
preferably to chest level.
Converse in a well-lighted area, if
possible.
Point out/specify where/to what you are
referring.
Be ready to warn about low
obstacles/unexpected steps.
Feel free to ask if he or she needs help.
For Parents

Read as much as you can about
Usher Syndrome, but especially
learn what the adults with Usher
have to share – go to
http://www.tr.wou.edu/dblink/lib/topics/topics.cfm

Go to training events with other
parents
http://www.tsbvi.edu/Outreach/maillist.htm

Help your child meet others with
Usher

Prepare yourself and your child

Never loose HOPE
Some important
resources

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Boys Town National Research
Hospital: National Center for the
Study and Treatment of Usher
Syndrome
www.boystownhospital.org
Foundation Fighting Blindness
www.blindness.org
DB-Link: National Consortium on
Deaf-Blindness
www.tr.wou.edu/dblink/
Texas Deafblind Outreach
www.tsbvi.edu
Texas School for the Deaf
www.tsd.state.tx.us
Don’t Forget to Fax
to
512-206-9320
Sign-in Sheets
 Include evaluations
 Print e-mail addresses
clearly if you want to
receive your SBEC
certificate

Thanks for
joining the
Usher Syndrome
TETN!